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通过DNA拷贝数变化区分黑素细胞痣与黑色素瘤:比较基因组杂交作为一种研究和诊断工具

Distinguishing melanocytic nevi from melanoma by DNA copy number changes: comparative genomic hybridization as a research and diagnostic tool.

作者信息

Bauer Jürgen, Bastian Boris C

机构信息

Departments of Dermatology and Pathology, UCSF Comprehensive Cancer Center, University of California at San Francisco, San Francisco, CA 94143-0808, USA.

出版信息

Dermatol Ther. 2006 Jan-Feb;19(1):40-9. doi: 10.1111/j.1529-8019.2005.00055.x.

Abstract

Cancer typically results in loosened control over genomic integrity, resulting in alterations of the genome of cancer cells. Comparative genomic hybridization (CGH) is a method that can be used on DNA extracted from routinely fixed tissue to assess the entire genome for the presence of changes in DNA copy number. CGH analysis has revealed that melanoma differs from melanocytic nevi by the presence of frequent chromosomal aberrations. In contrast, melanocytic nevi typically show no chromosomal aberrations, or have a restricted set of alterations with basically no overlap to melanoma. These marked differences between aberration patterns in melanomas and melanocytic nevi can be exploited diagnostically to classify melanocytic tumors that are ambiguous based on histopathologic assessment. In addition to potential diagnostic applications, detailed analyses of recurrent aberrations can lead to the identification of genes relevant in melanocytic neoplasia.

摘要

癌症通常会导致对基因组完整性的控制松弛,从而导致癌细胞基因组发生改变。比较基因组杂交(CGH)是一种可用于从常规固定组织中提取的DNA上,以评估整个基因组中DNA拷贝数变化情况的方法。CGH分析表明,黑色素瘤因频繁出现染色体畸变而与黑素细胞痣不同。相比之下,黑素细胞痣通常不显示染色体畸变,或者仅有一组有限的改变,且与黑色素瘤基本没有重叠。黑色素瘤和黑素细胞痣畸变模式之间的这些显著差异可用于诊断,以对基于组织病理学评估存在歧义的黑素细胞肿瘤进行分类。除了潜在的诊断应用外,对复发性畸变的详细分析还可导致识别与黑素细胞肿瘤形成相关的基因。

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